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Variant : CV72983 (GRCh38/hg38 5q31.2-32(chr5:138871137-145812309)x1) Homo sapiens

Symbol: CV72983
Name: GRCh38/hg38 5q31.2-32(chr5:138871137-145812309)x1
Condition: Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052142]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052142]|See cases [RCV000052142]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: ANKHD1   ANKHD1-EIF4EBP3   APBB3   ARAP3   ARHGAP26   ARHGAP26-AS1   ARHGAP26-IT1   CD14   CTNNA1   CXXC5   CXXC5-AS1   CYSTM1   DELE1   DIAPH1   DIAPH1-AS1   DNAJC18   DND1   ECSCR   EIF4EBP3   FCHSD1   FGF1   GNPDA1   HARS1   HARS2   HBEGF   HDAC3   HMHB1   IGIP   IK   KCTD16   LINC01844   LRRTM2   MALINC1   MATR3   MIR3655   MIR5197   MIR6831   MZB1   NDFIP1   NDUFA2   NR3C1   NRG2   PAIP2   PCDH1   PCDH12   PCDHA1   PCDHA10   PCDHA11   PCDHA12   PCDHA13   PCDHA2   PCDHA3   PCDHA4   PCDHA5   PCDHA6   PCDHA7   PCDHA8   PCDHA9   PCDHA@   PCDHAC1   PCDHAC2   PCDHACT   PCDHB1   PCDHB10   PCDHB11   PCDHB12   PCDHB13   PCDHB14   PCDHB15   PCDHB16   PCDHB2   PCDHB3   PCDHB4   PCDHB5   PCDHB6   PCDHB7   PCDHB8   PCDHB9   PCDHB@   PCDHG@   PCDHGA1   PCDHGA10   PCDHGA11   PCDHGA12   PCDHGA2   PCDHGA3   PCDHGA4   PCDHGA5   PCDHGA6   PCDHGA7   PCDHGA8   PCDHGA9   PCDHGB1   PCDHGB2   PCDHGB3   PCDHGB4   PCDHGB5   PCDHGB6   PCDHGB7   PCDHGC3   PCDHGC4   PCDHGC5   PFDN1   PRELID2   PROB1   PSD2   PSD2-AS1   PURA   RELL2   RNF14   SIL1   SLC23A1   SLC25A2   SLC35A4   SLC4A9   SMIM33   SNHG4   SNORA74A   SNORA74D   SPATA24   SPRY4   SPRY4-AS1   SPRY4-IT1   SRA1   STING1   TAF7   TMCO6   UBE2D2   VTRNA1-1   VTRNA1-2   VTRNA1-3   WDR55   YIPF5   ZMAT2  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000005.10:g.(?_138871137)_(145812309_?)del
NC_000005.9:g.(?_138206826)_(145191872_?)del
NC_000005.8:g.(?_138234725)_(145172065_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh385138,871,137 - 145,812,309CLINVAR
GRCh375138,206,826 - 145,191,872CLINVAR
Build 365138,234,725 - 145,172,065CLINVAR
Cytogenetic Map55q31.2-32CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 8619146
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-03-24
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.